Idiopathic Hypersomnia: Historical Account, Critical Review of Current Tests and Criteria, Diagnostic Evaluation in the Absence of Biological Markers and Robust Electrophysiological Diagnostic Criteria

Billiard, Michel; Šonka, Karel

doi:10.2147/nss.s266090

Cited by 12 publications

(9 citation statements)

References 61 publications

(120 reference statements)

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“…Particularly, ESS and SIQ values in patients without long sleep duration were like values in NT2 patients. Both groups are suggested to be heterogenous [ 4 , 30 ], and from time to time, the diagnosis should be retested and eventually changed from one to the other. IH patients with long sleep duration represent a more severe form of the disease and more stable diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…Narcolepsy type 1 (NT1), the more frequent form is a homogeneous entity with hypocretin deficiency while narcolepsy type 2 (NT2) is a heterogeneous disorder with an absence of clear biomarker predisposing to a challenging diagnosis [ 3 ]. Idiopathic hypersomnia (IH) is less frequent and is characterized by prolonged sleep attacks during the day, frequently accompanied by prolonged nocturnal sleep and difficulties awakening, termed sleep inertia [ 4 ]. Kleine–Levin syndrome (KLS) is an orphan disorder characterized by severe episodic hypersomnia with cognitive impairment accompanied by apathy or disinhibition [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women

et al. 2022

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Fatigue, depression, and sleep inertia are frequently underdiagnosed manifestations in narcolepsy and idiopathic hypersomnia. Our cross-sectional study design included diagnostic interview accompanied by assessment instruments and aimed to explore how these factors influence disease severity as well as to elucidate any sex predisposition. One hundred and forty-eight subjects (female 63%) were divided into narcolepsy type 1 (NT1; n = 87, female = 61%), narcolepsy type 2 (NT2; n = 22, female = 59%), and idiopathic hypersomnia (IH; n = 39, female = 69%). All subjects completed a set of questionnaires: Epworth Sleepiness Scale (ESS), Hospital Anxiety and Depression Scales (HADS), Fatigue Severity Scale (FSS), and Sleep Inertia Questionnaire (SIQ). In narcoleptic subjects, questionnaire data were correlated with the Narcolepsy Severity Scale (NSS), and in subjects with idiopathic hypersomnia, with the Idiopathic Hypersomnia Severity Scale (IHSS). The highest correlation in narcoleptic subjects was found between NSS and ESS (r = 0.658; p < 0.0001), as well as FSS (r = 0.506; p < 0.0001), while in subjects with idiopathic hypersomnia, the most prominent positive correlations were found between IHSS and SIQ (r = 0.894; p < 0.0001), FSS (r = 0.812; p < 0.0001), HADS depression scale (r = 0.649; p = 0.0005), and HADS anxiety scale (r = 0.528; p < 0.0001). ESS showed an analogic correlation with disease severity (r = 0.606; p < 0.0001). HADS anxiety and depression scores were higher in females (p < 0.05 and p < 0.01), with similar results for FSS and SIQ scales (p < 0.05 for both), and a trend toward higher ESS values in females (p = 0.057). Our study illustrates that more attention should be focused on pathophysiological mechanisms and associations of fatigue, depression, as well as sleep inertia in these diseases; they influence the course of both illnesses, particularly in women.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women

et al. 2022

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“…Daytime sleepiness with or without prolonged sleep time and associated symptoms but without cataplexy was first defined by Roth 1962 as hypersomnia, based on earlier reports and his own extensive clinical experience with such patients. In a recent review Billiard and Sonka (2022) have discussed the electrophysiological tests and varying diagnostic criteria since Roth's milestone publications.…”

Section: Narcolepsymentioning

confidence: 99%

The history of sleep research and sleep medicine in Europe

Schulz¹

2022

Journal of Sleep Research

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Summary Sleep became a subject of scientific research in the second half of the 19th century. Since sleep, unlike other physiological functions, cannot be attributed to a specific organ, there was no distinct method available to study sleep until then. With the development of physiology and psychology, and a rapidly increasing knowledge of the structure and functioning of the nervous system, certain aspects of sleep became accessible to objective study. A first step was to measure responsiveness to external stimuli systematically, during sleep, allowing a first representation of the course of sleep (Schlaftiefe = sleep depth). A second method was to register continuously the motor activity across the sleep–wake cycle, which allowed the documentation in detail of rest–activity patterns of monophasic and polyphasic sleep–wake rhythms, or between day or night active animals. The central measurement for sleep research, however, became the electroencephalogram in the 1930s, which allowed observation of the sleeping brain with high temporal resolution. Beside the development of instruments to measure sleep, prolonged sleep deprivation was applied to study physiological and psychological effects of sleep loss. Another input came from clinical and neuropathological observations of patients with pronounced disorders of the sleep–wake cycle, which for the first time allowed localisation of brain areas that are essentially involved in the regulation of sleep and wakefulness. Experimental brain stimulation and lesion studies were carried out with the same aim at this time. Many of these activities came to a halt on the eve of World War II. It was only in the early 1950s, when periods with rapid eye movements during sleep were recognised, that sleep became a research topic of itself. Jouvet and his team explored the brain mechanisms and transmitters of paradoxical sleep, and experimental sleep research became established in all European countries. Sleep medicine evolving simultaneously in different countries, with early centres in Italy and France. In the late 1960s sleep research and chronobiology began to merge. In recent decades, sleep research, dream research, and sleep medicine have benefited greatly from new methods in genetic research and brain imaging techniques. Genes were identified that are involved in the regulation of sleep, circadian rhythms, or sleep disorders. Functional imaging enabled a high spatial resolution of the activity of the sleeping brain, complementing the high temporal resolution of the electroencephalogram.

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“…Idiopathic hypersomnia (IH) is a rare neurological disease whose main symptom is hypersomnolence, which includes excessive daytime sleepiness and excessive amounts of sleep (extended nocturnal sleep and long naps, together called hypersomnia; Billiard & Sonka, 2022;Dauvilliers et al, 2022;Ohayon, 2008;Trotti, 2017a) The knowledge of IH aetiopathogenesis is limited, and its basic principles are still unknown (Dauvilliers et al, 2022;Trotti, 2017a).…”

Section: Introductionmentioning

confidence: 99%

Idiopathic hypersomnia years after the diagnosis

Šonka,

Feketeová,

Nevšímalová

et al. 2023

Journal of Sleep Research

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SummaryLittle attention has been paid to the long‐term development of idiopathic hypersomnia symptoms and idiopathic hypersomnia comorbidities. The aim of this study was to describe the general health of patients with idiopathic hypersomnia years after the initial diagnosis, focusing on current subjective hypersomnolence and the presence of its other possible causes. Adult patients diagnosed with idiopathic hypersomnia ≥ 3 years ago at sleep centres in Prague and Kosice were invited to participate in this study. A total of 60 patients were examined (age 47.3 ± SD = 13.2 years, 66.7% women). In all participants, their hypersomnolence could not be explained by any other cause but idiopathic hypersomnia at the time of diagnosis. The mean duration of follow‐up was 9.8 + 8.0 years. Fifty patients (83%) reported persisting hypersomnolence, but only 33 (55%) had no other disease that could also explain the patient's excessive daytime sleepiness and/or prolonged sleep. In two patients (3%), the diagnosis in the meantime had changed to narcolepsy type 2, and 15 patients (25%) had developed a disease or diseases potentially causing hypersomnolence since the initial diagnosis. Complete hypersomnolence resolution without stimulant treatment lasting longer than 6 months was reported by 10 patients (17%). To conclude, in a longer interval from the diagnosis of idiopathic hypersomnia, hypersomnolence may disappear or may theoretically be explained by another newly developed disease, or the diagnosis may be changed to narcolepsy type 2. Thus, after 9.8 years, only 55% of the examined patients with idiopathic hypersomnia had a typical clinical picture of idiopathic hypersomnia without doubts about the cause of the current hypersomnolence.

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Idiopathic Hypersomnia: Historical Account, Critical Review of Current Tests and Criteria, Diagnostic Evaluation in the Absence of Biological Markers and Robust Electrophysiological Diagnostic Criteria

Cited by 12 publications

References 61 publications

Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women

Central Disorders of Hypersomnolence: Association with Fatigue, Depression and Sleep Inertia Prevailing in Women

The history of sleep research and sleep medicine in Europe

Idiopathic hypersomnia years after the diagnosis

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